(Q37402486)

20 August 2017

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title

The molecular basis of human keratin disorders (English)

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20 August 2017

Meral Julia Arin

1

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20 August 2017

27 February 2009

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20 August 2017

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20 August 2017

125

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20 August 2017

4

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20 August 2017

355-373

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https://scigraph.springernature.com/pub.10.1007/s00439-009-0646-5

20 August 2017

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cites work

Molecular alterations in columnar cell lesions of the breast.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-009-0646-5

Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-009-0646-5

A mutation of keratin 18 within the coil 1A consensus motif causes widespread keratin aggregation but cell type-restricted lethality in mice

21 January 2018

1 reference

12 December 2020

Clinical heterogeneity in epidermolytic hyperkeratosis

1 reference

12 December 2020

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

1 reference

12 December 2020

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus

1 reference

12 December 2020

Structural features of keratin intermediate filaments

1 reference

12 December 2020

Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.

1 reference

12 December 2020

Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin

1 reference

12 December 2020

Palmoplantar keratodermas

1 reference

12 December 2020

Galli-Galli disease is an acantholytic variant of Dowling-Degos disease

1 reference

12 December 2020

Dual roles of intermediate filaments in apoptosis

1 reference

12 December 2020

Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity

1 reference

12 December 2020

Generalized Epidermolytic Hyperkeratosis in Two Unrelated Children from Parents with Localized Linear Form, and Prenatal Diagnosis

1 reference

12 December 2020

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

1 reference

12 December 2020

Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation

1 reference

12 December 2020

Diseases of epidermal keratins and their linker proteins

1 reference

12 December 2020

Phenotypes, genotypes and their contribution to understanding keratin function

1 reference

12 December 2020

Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

1 reference

12 December 2020

Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens

1 reference

12 December 2020

Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study

1 reference

12 December 2020

Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel disease.

1 reference

12 December 2020

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis

1 reference

12 December 2020

A frequent keratin 8 p.L227L polymorphism, but no point mutations in keratin 8 and 18 genes, in patients with various liver disorders

1 reference

12 December 2020

Intermediate filament cytoskeleton of the liver in health and disease

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12 December 2020

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds

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12 December 2020

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

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12 December 2020

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

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12 December 2020

Keratin 8 sequence variants in patients with pancreatitis and pancreatic cancer.

1 reference

12 December 2020

Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis

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12 December 2020

Structural and regulatory functions of keratins.

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12 December 2020

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

1 reference

12 December 2020

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

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12 December 2020

Supplementation of a mutant keratin by stable expression of desmin in cultured human EBS keratinocytes.

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12 December 2020

Keratin function in skin epithelia: a broadening palette with surprising shades

1 reference

12 December 2020

Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1

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12 December 2020

The IBD2 locus shows linkage heterogeneity between ulcerative colitis and Crohn disease

1 reference

12 December 2020

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

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12 December 2020

[Keratin 17 gene mutation in patients with steatocystoma multiplex]

1 reference

12 December 2020

Birthmark due to cutaneous mosaicism for keratin 10 mutation

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12 December 2020

A functional "knockout" of human keratin 14

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12 December 2020

Palmoplantar keratoderma with tonotubular keratin

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12 December 2020

Hair follicle-specific keratins and their diseases

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12 December 2020

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

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12 December 2020

A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family

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12 December 2020

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1

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12 December 2020

Intermediate filament scaffolds fulfill mechanical, organizational, and signaling functions in the cytoplasm

1 reference

12 December 2020

Review article: the genetics of inflammatory bowel disease

1 reference

12 December 2020

A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.

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12 December 2020

Defects in the barrier

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12 December 2020

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database

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12 December 2020

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

1 reference

12 December 2020

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation

1 reference

12 December 2020

Gene therapy progress and prospects: the skin--easily accessible, but still far away

1 reference

12 December 2020

An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae

1 reference

12 December 2020

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.

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12 December 2020

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

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12 December 2020

"Heads and tails" of intermediate filament phosphorylation: multiple sites and functional insights.

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12 December 2020

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

1 reference

12 December 2020

Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case

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12 December 2020

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

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12 December 2020

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

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12 December 2020

Keratins of the human hair follicle

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12 December 2020

Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix

1 reference

12 December 2020

A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma

1 reference

12 December 2020

Hard alpha-keratin intermediate filaments: an alternative interpretation of the low-angle equatorial X-ray diffraction pattern, and the axial disposition of putative disulphide bonds in the intra- and inter-protofilamentous networks

1 reference

12 December 2020

Keratins let liver live: Mutations predispose to liver disease and crosslinking generates Mallory-Denk bodies.

1 reference

12 December 2020

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly

1 reference

12 December 2020

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease

1 reference

12 December 2020

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

1 reference

12 December 2020

Novel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules

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12 December 2020

Knocking down disease with siRNAs

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12 December 2020

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

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12 December 2020

A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus

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12 December 2020

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

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12 December 2020

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

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12 December 2020

Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases

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12 December 2020

Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes

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12 December 2020

Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits.

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12 December 2020

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

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12 December 2020

An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy

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12 December 2020

New consensus nomenclature for mammalian keratins

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12 December 2020

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

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12 December 2020

Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14

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12 December 2020

Keratins as susceptibility genes for end-stage liver disease

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12 December 2020

Structure, function, and dynamics of keratin intermediate filaments

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12 December 2020

A novel substitution in keratin 10 in epidermolytic hyperkeratosis

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12 December 2020

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

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12 December 2020

Inherited disorders of epidermal keratinization

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12 December 2020

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

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12 December 2020

A disease- and phosphorylation-related nonmechanical function for keratin 8.

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12 December 2020

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

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12 December 2020

Nail that mutation-keratin 17 defect in late-onset pachyonychia.

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12 December 2020

Keratins and skin disorders

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12 December 2020

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

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12 December 2020

The human keratins: biology and pathology

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12 December 2020

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

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12 December 2020

White sponge nevus (leukoedema exfoliativum mucosae oris): Ultrastructural observations

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12 December 2020

Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.

1 reference

12 December 2020

Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

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12 December 2020

Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif

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12 December 2020

Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease.

1 reference

12 December 2020

Role for the PP2A/B56delta phosphatase in regulating 14-3-3 release from Cdc25 to control mitosis

1 reference

12 December 2020

A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.

1 reference

12 December 2020

Cutaneous gene transfer for skin and systemic diseases

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12 December 2020

Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma

1 reference

12 December 2020

L457F missense mutation within the 2B rod domain of keratin 9 in a Japanese family with epidermolytic palmoplantar keratoderma

1 reference

12 December 2020

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex

1 reference

12 December 2020

Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease?

1 reference

12 December 2020

Seeking candidate mutations that affect iron homeostasis

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12 December 2020

Keratin expression in the normal nail unit: markers of regional differentiation.

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12 December 2020

Focal activation of a mutant allele defines the role of stem cells in mosaic skin disorders

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12 December 2020

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation

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12 December 2020

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

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12 December 2020

Direct injection of naked DNA and cytokine transgene expression: implications for keratinocyte gene therapy

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12 December 2020

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome

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12 December 2020

Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12

1 reference

12 December 2020

Keratosis palmoplantaris diffusa V�rner Klinische, formalgenetische und molekularbiologische Untersuchungen bei 22?Familien

1 reference

12 December 2020

Cytokine gene expression in epidermis with biological effects following injection of naked DNA

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12 December 2020

Lessons from keratin 18 knockout mice: formation of novel keratin filaments, secondary loss of keratin 7 and accumulation of liver-specific keratin 8-positive aggregates

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12 December 2020

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

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12 December 2020

Clinical utility of cytokeratins as tumor markers

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12 December 2020

Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis

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12 December 2020

Generalized epidermolytic hyperkeratosis in a child born to a parent with systematized epidermolytic linear epidermal nevus

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12 December 2020

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

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12 December 2020

Induction of Inflammatory Cytokines by a Keratin Mutation and their Repression by a Small Molecule in a Mouse Model for EBS

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12 December 2020

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis

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12 December 2020

Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis

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12 December 2020

Basal phenotype of ductal carcinoma in situ: recognition and immunohistologic profile

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12 December 2020

Regulatory mechanisms and functions of intermediate filaments: a study using site- and phosphorylation state-specific antibodies

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12 December 2020

The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells

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12 December 2020

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

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12 December 2020

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex

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12 December 2020

Probing the fetal genome: progress in non-invasive prenatal diagnosis

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12 December 2020

A highly conserved lysine residue on the head domain of type II keratins is essential for the attachment of keratin intermediate filaments to the cornified cell envelope through isopeptide crosslinking by transglutaminases

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12 December 2020

Functional differences between keratins of stratified and simple epithelia

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12 December 2020

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

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12 December 2020

WHO 2004 criteria and CK19 are reliable prognostic markers in pancreatic endocrine tumors

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12 December 2020

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

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12 December 2020

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis

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12 December 2020

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma

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12 December 2020

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

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12 December 2020

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

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12 December 2020

Keratins: a structural scaffold with emerging functions.

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12 December 2020

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type

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12 December 2020

New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy

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12 December 2020

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis

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12 December 2020

Denaturing temperature selection may underestimate keratin mutation detection by DHPLC.

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12 December 2020

Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

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12 December 2020

Ectopic expression of desmin in the epidermis of transgenic mice permits development of a normal epidermis

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12 December 2020

10.1007/S00439-009-0646-5

Identifiers

DOI

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20 August 2017

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PubMed ID

19247691